| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Autosomal dominant Robinow syndrome 2 +1 more | GConflicting classifications of pathogenicity |
| | | Copy number loss | not provided | |
| | | Copy number loss | Chromosome 1p36 deletion syndrome | |
| | | Copy number loss | Chromosome 1p36 deletion syndrome | |
| | ANKRD65, ARHGEF16
+97 more | Copy number loss | Chromosome 1p36 deletion syndrome | |
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